Genomes and Genes
Experts and Doctors on humans in Salt Lake City, Utah, United States
Locale: Salt Lake City, Utah, United States
Publications504 found, 100 shown here
- Roy N, Mauszycki S, Merrill R, Gouse M, Smith M. Toward improved differential diagnosis of adductor spasmodic dysphonia and muscle tension dysphonia. Folia Phoniatr Logop. 2007;59:83-90 pubmed..Phonetic loading influences sign expression in ADSD, and assists in discriminating ADSD from MTD. ..
- Brant Zawadzki P, Fenton S, Nichol P, Matlak M, Scaife E. The split abdominal wall muscle flap repair for large congenital diaphragmatic hernias on extracorporeal membrane oxygenation. J Pediatr Surg. 2007;42:1047-50; discussion 1051 pubmed..We present our series of diaphragmatic hernias with a focus on those repaired with the split abdominal wall technique while on ECMO...
- Zimmerman G, Weyrich A. Signal-dependent protein synthesis by activated platelets: new pathways to altered phenotype and function. Arterioscler Thromb Vasc Biol. 2008;28:s17-24 pubmed publisher..Signal-dependent translation and consequent protein synthesis are examples of a diverse group of posttranscriptural mechanisms in activated platelets that are now being revealed. ..
- McIntosh S, Swanson E, Barton E. Cricothyrotomy in air medical transport. J Trauma. 2008;64:1543-7 pubmed publisher..The endpoint of airway maneuvers is a cricothyrotomy which may be live-saving if other measures fail. We reviewed cricothyrotomy cases in our AMT program to evaluate the success rate and the circumstances surrounding the procedure...
- Stevens P, Klatt J. Guided growth for pathological physes: radiographic improvement during realignment. J Pediatr Orthop. 2008;28:632-9 pubmed publisher..We believe that by correcting and maintaining alignment, secondary bony deformities may be ameliorated and osteotomies for angular correction deferred if not avoided altogether. IV (retrospective clinical series). ..
- Rogers A, Huff C. Linkage disequilibrium between loci with unknown phase. Genetics. 2009;182:839-44 pubmed publisher..This provides a means of estimating these parameters without iteration and without assuming random mating. This estimator is nearly as accurate as the widely used EM estimator and is many times faster. ..
- Slattery M, Curtin K, Wolff R, Herrick J, Caan B, Samowitz W. Diet, physical activity, and body size associations with rectal tumor mutations and epigenetic changes. Cancer Causes Control. 2010;21:1237-45 pubmed publisher..68 95% CI 0.47, 0.98; p linear trend 0.03). These data suggest that diet and lifestyle factors are associated with specific types of rectal tumor mutations and epigenetic changes. Findings need confirmation in other studies. ..
- Green S, Coyne H, McIntosh L, Graves B. DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association. J Biol Chem. 2010;285:18496-504 pubmed publisher..We speculate that TEL compensates for the low affinity, which is caused by autoinhibition, by binding to DNA as a cooperative polymer. ..
- Lowe G, Lowe G, Henderson C, Grau R, Hansen C, Sontheimer R. A systematic review of drug-induced subacute cutaneous lupus erythematosus. Br J Dermatol. 2011;164:465-72 pubmed publisher..It should be recognized as a distinct clinical constellation differing clinically and immunologically from the classical form of drug-induced systemic lupus erythematosus. ..
- Welch S, Dalto J. Improving door-to-physician times in 2 community hospital emergency departments. Am J Med Qual. 2011;26:138-44 pubmed publisher..In addition, the LWBS rates at each facility fell by one third. Basic process improvement strategies borrowed from service industries were used in 2 EDs to improve the door-to-physician process. ..
- Camp S, Cartwright P, Siddiqi F. The prefabricated gracilis muscle flap with full-thickness skin graft and delay for urethral channel reconstruction. Ann Plast Surg. 2011;67:59-61 pubmed publisher..We believe that this procedure offers a unique solution to a difficult problem with decreased morbidity and cosmetic advantages over other methods requiring microvascular anastomoses...
- Roy N. Denervation of the external branch of the superior laryngeal nerve: laryngeal and phonatory features. Curr Opin Otolaryngol Head Neck Surg. 2011;19:182-7 pubmed publisher..Research is necessary to assess the precision of epiglottic petiole deviation as a possible marker of unilateral ESLN denervation. ..
- Vijay Kumar D, Hoarau C, Bursavich M, Slattum P, Gerrish D, Yager K, et al. Lead optimization of purine based orally bioavailable Mps1 (TTK) inhibitors. Bioorg Med Chem Lett. 2012;22:4377-85 pubmed publisher..On-target activity confirmation via mechanism based G2/M escape assay was demonstrated. Physico-chemical and ADME properties were optimized to improve oral bioavailability in mouse. ..
- Votteler J, Sundquist W. Virus budding and the ESCRT pathway. Cell Host Microbe. 2013;14:232-41 pubmed publisher..Here, we review how viruses mimic cellular recruiting signals to usurp the ESCRT pathway, discuss mechanistic models for ESCRT pathway functions, and highlight important research frontiers. ..
- Marrouche N, Wilber D, Hindricks G, Jais P, Akoum N, Marchlinski F, et al. Association of atrial tissue fibrosis identified by delayed enhancement MRI and atrial fibrillation catheter ablation: the DECAAF study. JAMA. 2014;311:498-506 pubmed publisher..The clinical implications of this association warrant further investigation. ..
- Singleton M, Guthery S, Voelkerding K, Chen K, Kennedy B, Margraf R, et al. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet. 2014;94:599-610 pubmed publisher..As we demonstrate, Phevor can also use latent information in ontologies to discover genes and disease-causing alleles not previously associated with disease. ..
- Bae Y, Lee S, Green E, Park J, Ko K, Han J, et al. Characterization of basic amino acids-conjugated PAMAM dendrimers as gene carriers for human adipose-derived mesenchymal stem cells. Int J Pharm. 2016;501:75-86 pubmed publisher..Also, treatment of human AD-MSCs to polyplex formation in conjugated PAMAM derivatives, their cellular uptake and localization were analyzed by flow cytometry and confocal microscopy. ..
- Burgess P, Jones L. Perceptions of effort and heaviness during fatigue and during the size-weight illusion. Somatosens Mot Res. 1997;14:189-202 pubmed..The fatigue-weight illusion also has the effect of increasing perceptual acuity as the subject's weight lifting range decreases due to fatigue. ..
- Barker D, Denison J, Atkin C, Gregory M. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. Am J Med Genet. 2001;98:148-60 pubmed..One of the 29 different mutations detected initially seemed to be a missense change in exon 32 but was found to cause exon skipping. Another missense variant may mark a novel functional site located in the collagenous domain...
- Wing S, Askew E, Luetkemeier M, Ryujin D, Kamimori G, Grissom C. Lack of effect of Rhodiola or oxygenated water supplementation on hypoxemia and oxidative stress. Wilderness Environ Med. 2003;14:9-16 pubmed..This study investigated the effects of 2 potentially "oxygen promoting" dietary supplements on hypoxia and oxidative stress at a simulated altitude of 4600 m...
- Slattery M, Samowtiz W, Ma K, Murtaugh M, Sweeney C, Levin T, et al. CYP1A1, cigarette smoking, and colon and rectal cancer. Am J Epidemiol. 2004;160:842-52 pubmed..These data support the association between smoking and colon and rectal cancer. Smoking may have a greater impact on colorectal cancer risk based on CYP1A1 genotype; this might further be modified by GSTM1 for rectal cancer risk. ..
- Anderson R, Walker M, Viner J, Kestle J. Adjustment and malfunction of a programmable valve after exposure to toy magnets. Case report. J Neurosurg. 2004;101:222-5 pubmed..The authors present a case in which a child playing with a collection of commercially available toy magnets altered the pressure setting of an implanted valve and may have caused its permanent malfunction. ..
- McMillin G, Juenke J, Dasgupta A. Effect of ultrafiltrate volume on determination of free phenytoin concentration. Ther Drug Monit. 2005;27:630-3 pubmed..Therefore, equilibrium of phenytoin concentrations between the ultrafiltrate and retentate was maintained, regardless of centrifugation time or protein concentration. ..
- Webster L, Walker M. Safety and efficacy of prolonged outpatient ketamine infusions for neuropathic pain. Am J Ther. 2006;13:300-5 pubmed..Prolonged analgesic doses of ketamine infusions were safe for the small sample studied. The results demonstrate that ketamine may provide a reasonable alternative treatment for nonresponsive neuropathic pain in ambulatory outpatients. ..
- Aoki V, Emery B, Liu L, Carrell D. Protamine levels vary between individual sperm cells of infertile human males and correlate with viability and DNA integrity. J Androl. 2006;27:890-8 pubmed..The data also demonstrate individual sperm cells displaying the lowest protamine levels display diminished viability and increased sperm cell susceptibility to DNA damage. ..
- Mitchell J, Fomous C, Fun J. Challenges and strategies of the Genetics Home Reference. J Med Libr Assoc. 2006;94:336-42 pubmed..Informatics strategies are key to effective management of a large and expanding body of genetics information. Feedback from formal and informal sources indicates increasing usage and favorable acceptance of GHR. ..
- Lewis T, Coffin C, Bernard P. Differentiating Ewing's sarcoma from other round blue cell tumors using a RT-PCR translocation panel on formalin-fixed paraffin-embedded tissues. Mod Pathol. 2007;20:397-404 pubmed..Our real-time RT-PCR assay for detecting sarcoma translocations has high sensitivity and specificity for Ewing's sarcoma and has clinical utility in differentiating small round blue cell tumors in the clinical lab. ..
- Schenkenberg T, Kochenour N, Botkin J. Ethical considerations in clinical care of the "VIP". J Clin Ethics. 2007;18:56-63 pubmed
- Al Salihi M, Terrece Pearman A, Doan T, Reichert E, Rosenberg D, Prescott S, et al. Transgenic expression of cyclooxygenase-2 in mouse intestine epithelium is insufficient to initiate tumorigenesis but promotes tumor progression. Cancer Lett. 2009;273:225-32 pubmed publisher..Collectively, our data indicate that COX-2 promotes colon tumor progression, but not initiation, and it does so, in part, by activating EGFR and Akt signaling pathways. ..
- Parker C. Eculizumab for paroxysmal nocturnal haemoglobinuria. Lancet. 2009;373:759-67 pubmed publisher..Moreover, due to the heterogeneous nature of the disease, treatment with eculizumab is not appropriate for all patients with PNH. ..
- McCool R, Warren F, Wiggins R, Hunt J. Robotic surgery of the infratemporal fossa utilizing novel suprahyoid port. Laryngoscope. 2010;120:1738-43 pubmed publisher..A midline suprahyoid port placement provides minimally invasive access for excellent exposure of the infratemporal fossa bilaterally. ..
- Rapoport N, Nam K, Gupta R, Gao Z, Mohan P, Payne A, et al. Ultrasound-mediated tumor imaging and nanotherapy using drug loaded, block copolymer stabilized perfluorocarbon nanoemulsions. J Control Release. 2011;153:4-15 pubmed publisher..Anticipated mechanisms of the observed effects are discussed. ..
- Wagner A, Pappas L, Ghia A, Gaffney D. Impact of tumor size on survival in cancer of the cervix and validation of stage IIA1 and IIA2 subdivisions. Gynecol Oncol. 2013;129:517-21 pubmed publisher..Size is independently prognostic within each stage in cervical cancer, validating the recent changes to the FIGO staging system. ..
- Affolter K, Samowitz W, Tripp S, Bronner M. BRAF V600E mutation detection by immunohistochemistry in colorectal carcinoma. Genes Chromosomes Cancer. 2013;52:748-52 pubmed publisher..The overall sensitivity and specificity of the immunohistochemical BRAF V600E assay was 100%. Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. ..
- Liu Y, Jia Z, Liu S, Downton M, Liu G, Du Y, et al. Combined losartan and nitro-oleic acid remarkably improves diabetic nephropathy in mice. Am J Physiol Renal Physiol. 2013;305:F1555-62 pubmed publisher..These data demonstrate that combination of losartan and OA-NO2 effectively reverses renal injury in DN. ..
- Mack S, Witt H, Piro R, Gu L, Zuyderduyn S, Stütz A, et al. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 2014;506:445-50 pubmed publisher..We conclude that epigenetic modifiers are the first rational therapeutic candidates for this deadly malignancy, which is epigenetically deregulated but genetically bland. ..
- Garnreiter J, Pilcher T, Etheridge S, Saarel E. Inappropriate ICD shocks in pediatrics and congenital heart disease patients: Risk factors and programming strategies. Heart Rhythm. 2015;12:937-42 pubmed publisher..Programming high detection rates and long detection duration resulted in a low rate of inappropriate shocks without associated adverse events in this large cohort of pediatric and CHD patients with ICDs. ..
- Fuchs M, Anderson R, Ostrowski K, Brant W, Fuchs E. Pre-operative risk factors associated with need for vasoepididymostomy at the time of vasectomy reversal. Andrology. 2016;4:160-2 pubmed publisher..Using these pre-operative predictors is helpful in identifying patients who will benefit from referral to an experienced surgeon who can perform VE. ..
- Sardar P, Chatterjee S, Aronow H, Kundu A, Ramchand P, Mukherjee D, et al. Carotid Artery Stenting Versus Endarterectomy for Stroke Prevention: A Meta-Analysis of Clinical Trials. J Am Coll Cardiol. 2017;69:2266-2275 pubmed publisher..The risk of long-term overall stroke was significantly higher with CAS, and was mostly attributed to periprocedural minor stroke. CAS was associated with lower rates of periprocedural MI and cranial nerve palsy than CEA. ..
- Eilbeck K, QUINLAN A, Yandell M. Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet. 2017;18:599-612 pubmed publisher..We place variant prioritization in the wider context of gene prioritization, burden testing and genotype-phenotype association, and we discuss opportunities and challenges introduced by whole-genome sequencing. ..
- Verstovsek S, Mesa R, Salama M, Li L, Pitou C, Nunes F, et al. A phase 1 study of the Janus kinase 2 (JAK2)V617F inhibitor, gandotinib (LY2784544), in patients with primary myelofibrosis, polycythemia vera, and essential thrombocythemia. Leuk Res. 2017;61:89-95 pubmed publisher..Gandotinib demonstrated an acceptable safety and tolerability profile, and findings at the maximum-tolerated dose of 120mg supported further clinical testing. Clinicaltrials.gov identifier: NCT01134120. ..
- Crockett D, Frank E, Roberts W. Rapid analysis of metanephrine and normetanephrine in urine by gas chromatography-mass spectrometry. Clin Chem. 2002;48:332-7 pubmed..We describe a gas chromatography-mass spectrometry method designed to overcome these limitations...
- Byington C, Rittichier K, Bassett K, Castillo H, Glasgow T, Daly J, et al. Serious bacterial infections in febrile infants younger than 90 days of age: the importance of ampicillin-resistant pathogens. Pediatrics. 2003;111:964-8 pubmed..This finding impacts antibiotic selection, especially in cases of meningitis. Local surveillance of pathogens and antibiotic susceptibility patterns is critical to determine appropriate antibiotic therapy. ..
- Forster A, Whitby F, Hill C. The pore of activated 20S proteasomes has an ordered 7-fold symmetric conformation. EMBO J. 2003;22:4356-64 pubmed..Evolutionary considerations suggest that other activators might induce the same open proteasome conformation as seen with the 11S activator. ..
- Zimmerman G, McIntyre T. PAF, ceramide and pulmonary edema: alveolar flooding and a flood of questions. Trends Mol Med. 2004;10:245-8 pubmed
- Caravati E, Juenke J, Crouch B, Anderson K. Quetiapine cross-reactivity with plasma tricyclic antidepressant immunoassays. Ann Pharmacother. 2005;39:1446-9 pubmed..Quetiapine cross-reacts with quantitative and qualitative plasma TCA immunoassays in a concentration-dependent fashion. Therapeutic use or overdose of quetiapine may result in a false-positive TCA immunoassay result. ..
- Karan G, Yang Z, Howes K, Zhao Y, Chen Y, Cameron D, et al. Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants. Mol Vis. 2005;11:657-64 pubmed..We propose that "inactivation" of the wild-type ELOVL4 protein through sequestration to a non-ER compartment by ELOVL4 mutants may play a role in cellular dysfunction. ..
- Slattery M, Sweeney C, Murtaugh M, Ma K, Caan B, Potter J, et al. Associations between vitamin D, vitamin D receptor gene and the androgen receptor gene with colon and rectal cancer. Int J Cancer. 2006;118:3140-6 pubmed..05) relative to men with fewer than 23 CAG repeats of the AR gene. These data provide support for the role of vitamin D and sunshine exposure in the etiology of colorectal cancer and suggest that AR gene may modulate the association. ..
- Silver R. Fetal death. Obstet Gynecol. 2007;109:153-67 pubmed..Outcomes may be improved in women with diabetes, hypertension, red cell alloimmunization, and antiphospholipid syndrome. However, there is considerable room for further reduction in the fetal death rate. ..
- Wagner L, Christensen C, Dunn D, Spangrude G, Georgelas A, Kelley L, et al. EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression. Blood. 2007;109:5191-8 pubmed..Therefore, EGO is a novel ncRNA gene expressed during eosinophil development and is necessary for normal MBP and EDN transcript expression. ..
- Anderson J, Horne B, Stevens S, Grove A, Barton S, Nicholas Z, et al. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation. 2007;116:2563-70 pubmed..Despite this, the primary end point of a reduction in out-of-range INRs was not achieved. In subset analyses, pharmacogenetic guidance showed promise for wild-type and multiple variant genotypes. ..
- Ball W, LeFevre S, Jarup L, Beale L. Comparison of different methods for spatial analysis of cancer data in Utah. Environ Health Perspect. 2008;116:1120-4 pubmed publisher..The RIF is an easy-to-use and useful tool that extends the ability of the investigator to conduct analysis of disease rates and interpret the findings. ..
- Everitt M, Pinto N, Hawkins J, Mitchell M, Kouretas P, Yetman A. Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome. J Thorac Cardiovasc Surg. 2009;137:1327-32; discussion 1332-3 pubmed publisher..Those undergoing valve-sparing root replacement or mitral valve repair have a low risk for reoperation. Postoperative angiotensin-converting enzyme inhibitor therapy confers clinical benefit. ..
- Guo J, Poynton M, Matney S, Ellington L, Crouch B, Caravati E. Requirements analysis for HL7 message development in poison control center. Stud Health Technol Inform. 2009;146:758-9 pubmed..The purpose of this study was to create a preliminary domain analysis model which can be used to identify the data required to message poison control data in HL7 messages. ..
- Brogan S, Junkins S. Interventional therapies for the management of cancer pain. J Support Oncol. 2010;8:52-9 pubmed
- Kumanovics A, Perkins S, Gilbert H, Cessna M, Augustine N, Hill H. Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation. J Clin Immunol. 2010;30:886-93 pubmed publisher..We review the literature regarding lymphoma in hyper-IgE syndrome and the possible etiologic relationship with STAT3 mutations. ..
- Abo R, Wong J, Thomas A, Camp N. Haplotype association analyses in resources of mixed structure using Monte Carlo testing. BMC Bioinformatics. 2010;11:592 pubmed publisher..The availability of meta-association and haplotype-mining modules in our suite of Monte Carlo haplotype procedures adds further value to the approach. ..
- Brown L, Chen H, Halpern S, Taichman D, McGoon M, Farber H, et al. Delay in recognition of pulmonary arterial hypertension: factors identified from the REVEAL Registry. Chest. 2011;140:19-26 pubmed publisher..Younger individuals and patients with histories of common respiratory disorders were most likely to experience delayed PAH recognition. ClinicalTrials.gov; No.: NCT00370214; URL: www.clinicaltrials.gov. ..
- Hersh A, Shapiro D, Pavia A, Shah S. Antibiotic prescribing in ambulatory pediatrics in the United States. Pediatrics. 2011;128:1053-61 pubmed publisher..These findings can inform the development and implementation of antibiotic stewardship efforts in ambulatory care toward the most important geographic regions, diagnostic conditions, and patient populations. ..
- Lowrance W, Elkin E, Yee D, Feifer A, Ehdaie B, Jacks L, et al. Locally advanced prostate cancer: a population-based study of treatment patterns. BJU Int. 2012;109:1309-14 pubmed publisher..The slightly increased use of multimodality therapy since 2003 is encouraging, but further work is needed to increase combination therapy in appropriate patients and to define the role of RP. ..
- Petteys B, Graham K, Parnas M, Holt C, Frank E. Performance characteristics of an LC-MS/MS method for the determination of plasma metanephrines. Clin Chim Acta. 2012;413:1459-65 pubmed publisher..The method was accurate and correlated well to a comparison HPLC method. Potential interferences were evaluated. Results from this LC-MS/MS assay enable clinical diagnosis of pheochromocytoma and aid in monitoring treatment outcomes. ..
- Poruk K, Davis R, Smart A, Chisum B, Lasalle B, Chan G, et al. Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I. Neuromuscul Disord. 2012;22:966-73 pubmed publisher..Standardized growth charts may overestimate FTT status in SMA type I. ..
- Riehle C, Abel E. PGC-1 proteins and heart failure. Trends Cardiovasc Med. 2012;22:98-105 pubmed publisher..Here, we discuss the regulation of PGC-1 proteins under conditions of pressure overload hypertrophy and heart failure. ..
- Vanhille D, Nussenzveig R, Glezos C, Perkins S, Agarwal A. Best practices for use of the HEMOX analyzer in the clinical laboratory: quality control determination and choice of anticoagulant. Lab Hematol. 2012;18:17-9 pubmed..Use of the correct anticoagulant and strict control of buffer pH are 2 parameters that need to be accounted for in best-practices use of this hemoximeter and before determining P(50). ..
- Lanspa M, Jones B, Brown S, Dean N. Mortality, morbidity, and disease severity of patients with aspiration pneumonia. J Hosp Med. 2013;8:83-90 pubmed publisher..CURB-65 poorly predicts mortality in this population. ..
- Flis A, Duncan C, Pelt C, Rosenbluth J, Willick S. Left Hip Pain Caused by Right Hip Osteoarthritis in a Patient With an Incomplete Cervical Spinal Cord Injury: A Case Report. PM R. 2016;8:282-5 pubmed publisher..This case report suggests the occurrence of central sensory reorganization after an incomplete cervical spinal cord injury, which resulted in a patient perceiving right hip pathology in her left hip. ..
- Wortham J, Hansen N, Schrag S, Hale E, Van Meurs K, Sanchez P, et al. Chorioamnionitis and Culture-Confirmed, Early-Onset Neonatal Infections. Pediatrics. 2016;137: pubmed publisher..Implementation of current clinical guidelines may result in early diagnosis, but large numbers of uninfected asymptomatic infants would be treated. ..
- Spangler E, Brooke B, Beck A, Hoel A, Farber A, Goodney P. Design and initial enrollment in the Vascular Physicians Offer and Report (VAPOR) trial. J Vasc Surg. 2016;63:1121-5.e2 pubmed publisher..001). Although final results of the intervention on smoking cessation rates are still forthcoming, surgeon delivery of a brief, evidence-based smoking cessation intervention appears feasible for patients facing invasive vascular care. ..
- Kerig P, Bennett D, Chaplo S, Modrowski C, McGee A. Numbing of Positive, Negative, and General Emotions: Associations With Trauma Exposure, Posttraumatic Stress, and Depressive Symptoms Among Justice-Involved Youth. J Trauma Stress. 2016;29:111-9 pubmed publisher..24). Further tests using Hayes' Process macro showed that general numbing, 95% CI [.02, .45], and numbing of anger, 95% CI [.01, .42], demonstrated indirect effects on the association between trauma exposure and PTSD symptoms. ..
- Einum D, Zhang J, Arneson P, Menon A, Ptacek L. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1998;1:289-92 pubmed..AE3 variation may prove useful for further genetic studies, such as finer resolution mapping. Characterization of genomic structure will facilitate mutational analysis of AE3 in studies of neurological diseases mapped to the same locus. ..
- Moskos M, Achilles J, Gray D. Adolescent suicide myths in the United States. Crisis. 2004;25:176-82 pubmed..More funding is warranted to continue evidence-based studies. We propose that suicide be studied like any medical illness, and that future prevention efforts are evidence-based, with appropriate outcome measures. ..
- Zhang L, Benson D, Tristani Firouzi M, Ptacek L, Tawil R, Schwartz P, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005;111:2720-6 pubmed..The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ATS1 rather than LQT7. ..
- Bayrak Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou L, et al. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006;140:463-70 pubmed..We conclude that HHT2 has a later onset than HHT1 and the former may disproportionately involve smaller vessels in tissues with more significant vascular remodeling. ..
- Fuller S, Bowen G, Tanner B, Florell S, Grossman D. Digital dermoscopic monitoring of atypical nevi in patients at risk for melanoma. Dermatol Surg. 2007;33:1198-206; discussion 1205-6 pubmed..Although dermoscopy is a useful tool for clinical examination, the sensitivity of dermoscopic monitoring is limited by melanomas that may arise in normal skin or in clinically benign nevi that were not initially photographed. ..
- Patel S, Rowe M, Winters S, Ohls R. Elevated erythropoietin mRNA and protein concentrations in the developing human eye. Pediatr Res. 2008;63:394-7 pubmed publisher..Epo mRNA and protein concentrations increase with increasing gestational age and are greater in the vitreous than serum. We speculate that changes in Epo production following preterm delivery might affect retinal vascular development. ..
- Snow B, Taylor M. Non-invasive vesicoureteral reflux imaging. J Pediatr Urol. 2010;6:543-9 pubmed publisher..Developing technologies need improvements and further research before they may have a role in significantly decreasing voiding cystourethrography use or replacing it completely. ..
- Clark E, Silver R. Long-term maternal morbidity associated with repeat cesarean delivery. Am J Obstet Gynecol. 2011;205:S2-10 pubmed publisher..Clinicians and patients need to be aware of the long-term risks associated with cesarean delivery so that they can be considered when determining the method of delivery for first and subsequent births. ..
- Young P, Korgenski K, Buchi K. Early readmission of newborns in a large health care system. Pediatrics. 2013;131:e1538-44 pubmed publisher..Late preterm and early term newborns have higher rates of readmission and should be assessed for other factors associated with early readmission. ..
- Sen P, Kundu A, Sardar P, Chatterjee S, Nairooz R, Amin H, et al. Outcomes After Cardioversion in Atrial Fibrillation Patients Treated with Non-Vitamin K Antagonist Oral Anticoagulants (NOACs): Insights from a Meta-Analysis. Am J Cardiovasc Drugs. 2016;16:33-41 pubmed publisher..41, 95% CI 0.87-2.28). Data from patients enrolled in RCTs, showed that NOACs are effective and safe for AF patients undergoing cardioversion. ..
- Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell. 1992;69:275-81 pubmed..Thus, germline mutations in NF1 that cause neurofibromatosis 1 can also occur in somatic cells and contribute to the development of sporadic tumors, including tumors not associated with neurofibromatosis 1. ..
- Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589-600 pubmed..Analysis of DNA from parents of one of these patients showed that his 2 bp deletion is a new mutation; furthermore, the mutation was transmitted to two of his children. These data have established that DP2.5 is the APC gene. ..
- Eu J, Wang C, Andrade J. Homogeneous bioluminescence assay for galactosuria: interference and kinetic analysis. Anal Biochem. 1999;271:168-76 pubmed..The bioluminescence assay is relatively fast and specific for galactose with a linear range from 1 to 20 mM galactose. The effect of other galactose metabolites (galactonate and galactitol) has also been studied...
- Cao Y, Dave K, Doan T, Prescott S. Fatty acid CoA ligase 4 is up-regulated in colon adenocarcinoma. Cancer Res. 2001;61:8429-34 pubmed..These findings suggest that the FACL4 pathway may be important in colon carcinogenesis, and that the development of selective inhibitors for FACL4 may be a worthy effort in the prevention and treatment of colon cancer. ..
- Myles Worsley M, Park S. Spatial working memory deficits in schizophrenia patients and their first degree relatives from Palau, Micronesia. Am J Med Genet. 2002;114:609-15 pubmed
- Phillips J, Whitby F, Warby C, Labbe P, Yang C, Pflugrath J, et al. Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae. J Biol Chem. 2004;279:38960-8 pubmed..The structure therefore suggests residues that likely play critical roles in catalysis and explains the deleterious effect of many of the mutations associated with the disease hereditary coproporphyria. ..
- Liu J, Couldwell W. Intra-arterial papaverine infusions for the treatment of cerebral vasospasm induced by aneurysmal subarachnoid hemorrhage. Neurocrit Care. 2005;2:124-32 pubmed..This article reviews the mechanism of action, technique of administration, effects on CBF, clinical results, and complications of intra-arterial papaverine for the treatment of cerebral vasospasm. ..